Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion> ?p ?o ?g. }
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- NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion type Assertion NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_head.
- NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion description "[We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C --> A (p.A4E) was found in two women; deletion c. 15-36 del (p.G6fsX66), resulting in a frameshift that leads to haploinsufficiency, was found in one woman; and deletion c.419-421 delACA (p.140 delN) was found in one.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_provenance.
- NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion evidence source_evidence_literature NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_provenance.
- NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion SIO_000772 18499083 NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_provenance.
- NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion wasDerivedFrom befree-20140225 NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_provenance.
- NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_assertion wasGeneratedBy ECO_0000203 NP322975.RAR6sRgbYAaCcZHa4MRw99ap23QZTT-S5RXLI4gj2RdLA130_provenance.